Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RTL4_chrX_112078016_112462514	112390106	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03654.hp1 NA19012.hp1 HG03471.hp1 HG03654.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0001 a0001c0003t0002 a0002c0001t0001	a0001c0003t0002g0012 a0002c0001t0001g0093 a0002c0001t0001g0100 a0001c0003t0002g0012 a0002c0001t0001g0093 a0002c0001t0001g0100	3	134	0.0224	-22	c.-28 others(43): Show c.-284-40975_-284-40954delATATATATATATATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112419337	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	134	0.0075	-22	c.-28 others(43): Show c.-284-11757_-284-11736delTTTTTTTTTTTTTTTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749757	TTATATAT others(15): Show TTATATATCTATATGTATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02622.hp1 others(21): Show HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2 NA18964.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(21): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0006c0008t0001g0170	24	172	0.1395	-22	c.242 others(39): Show c.242-3298_242-3277delTAAATATACATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45497698	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	432	0.0023	-22	c.-89 others(31): Show c.-895_-874delTATATATATATATATATATATA	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding		652		chr19	TogoVar
RTN4RL1_chr17_1929677_2030334	1987718	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG03516.hp2 others(1): Show HG01109.hp2 HG02615.hp1 HG03516.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0017 a0001c0001t0031 a0004c0011t0011 a0001c0001t0017 a0001c0001t0031 a0004c0011t0011	a0001c0001t0017g0212 a0001c0001t0031g0203 a0001c0001t0031g0377 others(1): Show a0001c0001t0017g0212 a0001c0001t0031g0203 a0001c0001t0031g0377 a0004c0011t0011g0202	4	384	0.0104	-22	c.13+ others(39): Show c.13+37113_13+37134delGTGTGTGTGTGTGTGTGTGTGT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTP2_chr3_187693259_187707557	187699762	CACACACA others(15): Show CACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0041 a0002c0002t0003g0041	1	422	0.0024	-22	c.165 others(37): Show c.165-773_165-752delATGTGTGTGTGTGTGTGTGTGT	RTP2	ENSG00000198471.1	transcript	ENST00000358241.1	protein_coding	1/1			chr3	TogoVar
RTTN_chr18_69998031_70210687	70123333	CTCTGTGG others(15): Show CTCTGTGGTGAGAACATTTAACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG03471.hp2	a0006 a0017 a0006 a0017	a0006c0007 a0017c0022 a0006c0007 a0017c0022	a0006c0007t0001 a0017c0022t0004 a0006c0007t0001 a0017c0022t0004	a0006c0007t0001g0145 a0006c0007t0001g0146 a0006c0007t0001g0147 others(4): Show a0006c0007t0001g0145 a0006c0007t0001g0146 a0006c0007t0001g0147 a0006c0007t0001g0148 a0006c0007t0001g0149 a0006c0007t0001g0150 a0017c0022t0004g0105	7	156	0.0449	-22	c.338 others(41): Show c.3384-1655_3384-1634delTGTTAAATGTTCTCACCACAGA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	25/48			chr18	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(15): Show CATATATATATATATAGATATAT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA20129.hp1 NA18962.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0026 a0002c0002t0005 a0003c0003t0026	a0002c0002t0005g0178 a0003c0003t0026g0184 a0002c0002t0005g0178 a0003c0003t0026g0184	2	356	0.0056	-22	c.925 others(37): Show c.925+170_925+191delATATATCTATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUNDC3B_chr7_87623398_87837296	87626737	GTGTCATA others(15): Show GTGTCATATATATGTCATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0086 a0001c0001t0056g0086	1	202	0.0050	-22	c.-20 others(33): Show c.-2086_-2065delTGTCATATATATGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1660		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736871	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01978.hp2 others(19): Show HG01123.hp1 HG01358.hp1 HG01978.hp2 HG01981.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18975.hp1 NA18994.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 others(8): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0001t0077 a0001c0001t0079	a0001c0001t0002g0027 a0001c0001t0002g0162 a0001c0001t0002g0163 others(19): Show a0001c0001t0002g0027 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0002g0202 a0001c0001t0013g0030 a0001c0001t0013g0171 a0001c0001t0017g0170 a0001c0001t0017g0173 a0001c0001t0018g0174 a0001c0001t0018g0175 a0001c0001t0022g0179 a0001c0001t0022g0180 a0001c0001t0029g0181 a0001c0001t0040g0161 a0001c0001t0048g0028 a0001c0001t0050g0168 a0001c0001t0077g0169 a0001c0001t0079g0177	22	202	0.1089	-22	c.459 others(39): Show c.459-2918_459-2897delATATATATATATATATATTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736873	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp1 HG03453.hp1 others(8): Show HG01192.hp1 HG02129.hp1 HG03453.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA19001.hp2 NA19005.hp2 NA19056.hp1 NA19063.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 others(5): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0052 a0002c0002t0002 a0002c0002t0017	a0001c0001t0020g0034 a0001c0001t0020g0036 a0001c0001t0021g0029 others(8): Show a0001c0001t0020g0034 a0001c0001t0020g0036 a0001c0001t0021g0029 a0001c0001t0021g0032 a0001c0001t0035g0035 a0001c0001t0038g0182 a0001c0001t0041g0183 a0001c0001t0052g0038 a0002c0002t0002g0026 a0002c0002t0002g0031 a0002c0002t0017g0140	11	202	0.0545	-22	c.459 others(39): Show c.459-2916_459-2895delATATATATATATATATTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736877	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0016 a0001c0001t0069g0016	1	202	0.0050	-22	c.459 others(39): Show c.459-2912_459-2891delATATATATATATTTTTTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	91959412	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG02109.hp1 others(6): Show HG01069.hp1 HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 others(3): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0039 a0001c0001t0057 a0001c0003t0007	a0001c0001t0006g0015 a0001c0001t0015g0073 a0001c0001t0015g0075 others(6): Show a0001c0001t0006g0015 a0001c0001t0015g0073 a0001c0001t0015g0075 a0001c0001t0017g0040 a0001c0001t0039g0017 a0001c0001t0057g0088 a0001c0003t0007g0065 a0001c0003t0007g0102 a0001c0003t0007g0111	9	132	0.0682	-22	c.80 others(31): Show c.808_*829delCACACACACACACACACACACA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	12/12	808		chr8	TogoVar
RUNX1_chr21_34782801_35054302	34865279	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02451.hp1 others(7): Show HG00639.hp1 HG01175.hp2 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0002t0003	a0001c0001t0001g0070 a0001c0001t0001g0129 a0001c0001t0001g0163 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0129 a0001c0001t0001g0163 a0001c0001t0004g0010 a0001c0001t0004g0058 a0001c0001t0004g0141 a0001c0001t0010g0002 a0001c0001t0024g0132 a0001c0002t0003g0093 a0001c0002t0003g0099	10	170	0.0588	-22	c.509 others(39): Show c.509-5723_509-5702delACACACACACACACACACACAC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	5/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34993623	ACACACAC others(15): Show ACACACACACAGACACACACAGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	170	0.0059	-22	c.58+ others(39): Show c.58+55197_58+55218delCCTGTGTGTGTCTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34993646	CACACACA others(15): Show CACACACACACAGACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0121 a0001c0002t0007g0121	1	170	0.0059	-22	c.58+ others(39): Show c.58+55174_58+55195delCTCTGTGTGTCTGTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047541	ACACACAC others(15): Show ACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp1 HG01433.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0060 a0001c0001t0001g0146 a0001c0001t0002g0060	2	170	0.0118	-22	c.58+ others(37): Show c.58+1279_58+1300delAGTGTGTGTGTGTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047545	ACACACAC others(15): Show ACACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	170	0.0059	-22	c.58+ others(37): Show c.58+1275_58+1296delAGAGAGTGTGTGTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047549	ACACACAC others(15): Show ACACACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0115 a0001c0001t0023g0115	1	170	0.0059	-22	c.58+ others(37): Show c.58+1271_58+1292delAGAGAGAGAGTGTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011583	GAGGTGGG others(15): Show GAGGTGGGGGGGGTCAGCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02055.hp1 others(6): Show HG00741.hp2 HG01109.hp2 HG02055.hp1 HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0138	9	438	0.0206	-22	c.68- others(37): Show c.68-2984_68-2963delGGGGGGCTGACCCCCCCCACCT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RYR1_chr19_38428691_38592564	38549875	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show HG01433.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02257.hp2 HG03098.hp1 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0027 a0001c0096 a0006c0007 a0001c0027 a0001c0096 a0006c0007	a0001c0027t0001 a0001c0096t0001 a0006c0007t0002 a0001c0027t0001 a0001c0096t0001 a0006c0007t0002	a0001c0027t0001g0030 a0001c0027t0001g0059 a0001c0096t0001g0090 others(4): Show a0001c0027t0001g0030 a0001c0027t0001g0059 a0001c0096t0001g0090 a0006c0007t0002g0202 a0006c0007t0002g0203 a0006c0007t0002g0212 a0006c0007t0002g0213	7	218	0.0321	-22	c.122 others(43): Show c.12282+1485_12282+1506delGTGTGTGTGTGTGTGTGTGTGT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590386	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0001 a0002c0053t0001	a0002c0053t0001g0106 a0002c0053t0001g0106	1	218	0.0046	-22	c.29 others(33): Show c.2967_*2988delAAAAAAAAATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2823		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590392	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0115 a0004c0115	a0004c0115t0004 a0004c0115t0004	a0004c0115t0004g0216 a0004c0115t0004g0216	1	218	0.0046	-22	c.29 others(33): Show c.2973_*2994delAAATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2829		chr19	TogoVar
RYR2_chr1_237037184_237838988	237350596	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG00738.hp1 HG00741.hp2	a0001 a0002 a0001 a0002	a0001c0041 a0002c0039 a0001c0041 a0002c0039	a0001c0041t0006 a0002c0039t0036 a0001c0041t0006 a0002c0039t0036	a0001c0041t0006g0027 a0002c0039t0036g0030 a0001c0041t0006g0027 a0002c0039t0036g0030	2	100	0.0200	-22	c.274 others(39): Show c.274-5367_274-5346delAAAAAATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565101	TTTTCTTT others(15): Show TTTTCTTTCTTTCTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01169.hp2 others(9): Show HG00280.hp1 HG01168.hp1 HG01169.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02922.hp1 HG03017.hp2 HG03579.hp1 HG03704.hp2 NA18962.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0015 a0001c0028 a0001c0045 a0001c0049 a0002c0009 a0002c0012 a0002c0025 a0005c0033	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0010t0004 a0001c0015t0006 a0001c0028t0007 a0001c0045t0001 a0001c0049t0009 a0002c0009t0002 a0002c0012t0002 a0002c0025t0040 a0005c0033t0008	a0001c0001t0007g0082 a0001c0002t0001g0075 a0001c0002t0002g0022 others(9): Show a0001c0001t0007g0082 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0010t0004g0097 a0001c0015t0006g0034 a0001c0028t0007g0062 a0001c0045t0001g0073 a0001c0049t0009g0044 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0025t0040g0003 a0005c0033t0008g0049	12	100	0.1200	-22	c.321 others(41): Show c.3215-1450_3215-1429delTTCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03669.hp2 HG04228.hp1 HG01256.hp1 HG03669.hp2 HG04228.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0020 a0001c0002 a0001c0007 a0006c0020	a0001c0002t0002 a0001c0007t0019 a0006c0020t0001 a0001c0002t0002 a0001c0007t0019 a0006c0020t0001	a0001c0002t0002g0076 a0001c0007t0019g0057 a0006c0020t0001g0015 a0001c0002t0002g0076 a0001c0007t0019g0057 a0006c0020t0001g0015	3	100	0.0300	-22	c.443 others(39): Show c.4437-588_4437-567delTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237596620	CCACATCT others(15): Show CCACATCTTTGGAAAGATATGGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00738.hp1 others(23): Show HG00280.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG02055.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG03704.hp1 HG04228.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0028 a0001c0036 a0001c0041 a0001c0042 a0002c0039 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0020 a0001c0004t0030 a0001c0008t0028 a0001c0028t0007 a0001c0036t0003 a0001c0041t0006 a0001c0042t0017 a0002c0039t0036 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003	a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0003g0100 others(23): Show a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0006g0025 a0001c0001t0015g0069 a0001c0002t0001g0075 a0001c0002t0002g0076 a0001c0002t0009g0021 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0002g0092 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0008t0028g0039 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0041t0006g0027 a0001c0042t0017g0050 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086	26	100	0.2600	-22	c.459 others(39): Show c.4596+966_4596+987delCATCTTTGGAAAGATATGGACA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	34/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237795836	GTATATAT others(15): Show GTATATATATATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0050 a0001c0042t0017g0050	1	100	0.0100	-22	c.139 others(41): Show c.13956+519_13956+540delGTATATGTATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	96/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237795855	TGTATATA others(15): Show TGTATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0023 a0002c0012t0023	a0002c0012t0023g0074 a0002c0012t0023g0074	1	100	0.0100	-22	c.139 others(41): Show c.13956+525_13956+546delGTATATATATATATATATACAC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	96/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237795919	CGCGTATG others(15): Show CGCGTATGTGTGTACATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp1 others(47): Show HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01981.hp2 HG02055.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0022 a0001c0023 a0001c0026 a0001c0027 a0001c0032 a0001c0036 a0001c0048 a0002c0009 a0002c0031 a0002c0035 a0003c0006 a0003c0013 a0003c0021 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0004t0020 a0001c0004t0030 a0001c0007t0001 a0001c0007t0019 a0001c0007t0024 a0001c0008t0028 a0001c0008t0042 a0001c0010t0004 a0001c0011t0004 a0001c0011t0044 a0001c0016t0033 a0001c0022t0014 a0001c0023t0003 a0001c0026t0004 a0001c0027t0002 a0001c0032t0005 a0001c0036t0003 a0001c0048t0001 a0002c0009t0008 a0002c0031t0025 a0002c0035t0021 a0003c0006t0001 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003 a0003c0021t0001 a0006c0020t0001	a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0003g0089 others(47): Show a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0001t0007g0082 a0001c0001t0015g0069 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0009g0021 a0001c0002t0013g0017 a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0009 a0001c0004t0004g0045 a0001c0004t0018g0047 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0007t0001g0020 a0001c0007t0019g0057 a0001c0007t0024g0048 a0001c0008t0028g0039 a0001c0008t0042g0002 a0001c0010t0004g0097 a0001c0011t0004g0064 a0001c0011t0044g0054 a0001c0016t0033g0024 a0001c0022t0014g0066 a0001c0023t0003g0071 a0001c0026t0004g0055 a0001c0027t0002g0085 a0001c0032t0005g0098 a0001c0036t0003g0038 a0001c0048t0001g0007 a0002c0009t0008g0040 a0002c0031t0025g0056 a0002c0035t0021g0010 a0003c0006t0001g0083 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086 a0003c0021t0001g0019 a0006c0020t0001g0015	50	100	0.5000	-22	c.139 others(41): Show c.13956+590_13956+611delCGTATGTGTGTACATATGTATG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	96/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A12_chr1_153368711_153380621	153380520	AATTACGT others(15): Show AATTACGTAATTAGCCTTAATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00639.hp1 others(35): Show HG00099.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02965.hp2 HG03579.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18950.hp2 NA18961.hp1 NA18964.hp1 NA18987.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19056.hp2 NA19074.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0017	38	366	0.1038	-22	c.-50 others(33): Show c.-5011_-4990delGAATTAAGGCTAATTACGTAAT	S100A12	ENSG00000163221.9	transcript	ENST00000368737.5	protein_coding		4900		chr1	TogoVar
S100Z_chr5_76845014_76926650	76874419	TCTTTGCC others(15): Show TCTTTGCCTTCTTATCTAATGCA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	348	0.0029	-22	c.-56 others(37): Show c.-56-883_-56-862delTTTGCCTTCTTATCTAATGCAC	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906974	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG02895.hp1 others(3): Show HG01496.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0011 a0002c0002t0009 a0001c0001t0009 a0001c0001t0011 a0002c0002t0009	a0001c0001t0009g0035 a0001c0001t0009g0074 a0001c0001t0009g0075 others(3): Show a0001c0001t0009g0035 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0011g0025 a0001c0001t0011g0058 a0002c0002t0009g0081	6	348	0.0172	-22	c.3- others(39): Show c.3-13741_*3-13720delGTATATATATATATATATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76907003	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18998.hp1 NA18992.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0291 a0002c0002t0003g0213 a0002c0002t0001g0291 a0002c0002t0003g0213	2	348	0.0058	-22	c.3- others(39): Show c.3-13702_*3-13681delTATATATATACATATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAA1_chr11_18261264_18274967	18267773	CTCTTGGA others(15): Show CTCTTGGAAGGTGAGAAAGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp2 HG01261.hp2 HG01496.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0048 a0002c0001t0001g0049	2	442	0.0045	-22	c.91+ others(35): Show c.91+818_91+839delTCTTGGAAGGTGAGAAAGCTGA	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SACS_chr13_23323830_23438702	23438083	TCTCTCTC others(15): Show TCTCTCTCTCTGTCTCTCCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01069.hp1 others(34): Show HG00621.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02080.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG03831.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18967.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18995.hp1 NA19002.hp2 NA19011.hp2 NA19054.hp1 NA19068.hp1 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0038	a0001c0002 a0001c0004 a0001c0006 others(4): Show a0001c0002 a0001c0004 a0001c0006 a0002c0001 a0003c0005 a0009c0017 a0038c0056	a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0001c0006t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0003c0005t0001 a0009c0017t0001 a0038c0056t0001	a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0295 others(32): Show a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0295 a0001c0002t0003g0276 a0001c0002t0003g0288 a0001c0002t0003g0297 a0001c0004t0002g0275 a0001c0004t0002g0278 a0001c0004t0002g0289 a0001c0006t0001g0274 a0002c0001t0001g0003 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0280 a0002c0001t0001g0283 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0290 a0002c0001t0001g0298 a0002c0001t0001g0300 a0002c0001t0003g0299 a0002c0001t0004g0277 a0002c0001t0004g0293 a0003c0005t0001g0004 a0003c0005t0001g0279 a0003c0005t0001g0291 a0003c0005t0001g0292 a0003c0005t0001g0296 a0009c0017t0001g0294 a0038c0056t0001g0284	37	378	0.0979	-22	c.-49 others(33): Show c.-4992_-4971delGAGGGGAGAGACAGAGAGAGAG	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding		4382		chr13	TogoVar
SAGSIN1_chr7_6324411_6353967	6343397	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02257.hp1 HG02523.hp2 others(7): Show HG01258.hp1 HG02257.hp1 HG02523.hp2 HG02622.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp2 NA18946.hp1 NA19068.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0034	a0001c0001t0001g0404 a0001c0001t0001g0406 a0001c0001t0001g0408 others(7): Show a0001c0001t0001g0404 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0002g0365 a0001c0001t0003g0104 a0001c0001t0005g0407 a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0034g0405	10	420	0.0238	-22	c.186 others(39): Show c.186+5154_186+5175delATATATATATATATATATATAT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6351226	TTTATTAA others(15): Show TTTATTAATTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	420	0.0024	-22	c.-24 others(33): Show c.-2490_-2469delTAATAATAATAATAATTAATAA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		2260		chr7	TogoVar
SAG_chr2_233302816_233352055	233321986	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01081.hp2 others(37): Show HG00323.hp1 HG00423.hp2 HG01081.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02293.hp2 HG02615.hp2 HG02895.hp1 HG03195.hp2 HG04115.hp1 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19058.hp1 NA19078.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(37): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0298 a0001c0001t0001g0318 a0002c0002t0001g0036 a0002c0002t0001g0056	40	368	0.1087	-22	c.376 others(37): Show c.376-930_376-909delCACACACACACACACACACACA	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0033 a0003c0003t0003g0002 a0003c0003t0003g0033	2	314	0.0064	-22	c.-44 others(33): Show c.-4486_-4465delTATATATATATATATATATATT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0010 a0002c0002t0005g0010	1	314	0.0032	-22	c.-44 others(33): Show c.-4484_-4463delTATATATATATATATATATTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54568690	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0139 a0001c0004t0062g0139	1	262	0.0038	-22	c.196 others(37): Show c.196+608_196+629delTATATATATATATATATATATA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54602323	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG03453.hp2 HG00741.hp2 HG01496.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0043 a0002c0003t0010 a0001c0001t0001 a0001c0001t0043 a0002c0003t0010	a0001c0001t0001g0008 a0001c0001t0043g0022 a0002c0003t0010g0029 a0001c0001t0001g0008 a0001c0001t0043g0022 a0002c0003t0010g0029	3	262	0.0115	-22	c.196 others(41): Show c.196+34242_196+34263delACACACACACACACACACACAC	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54626043	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03486.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0056 a0001c0001t0004 a0001c0001t0007 a0001c0001t0056	a0001c0001t0004g0083 a0001c0001t0007g0014 a0001c0001t0056g0045 a0001c0001t0004g0083 a0001c0001t0007g0014 a0001c0001t0056g0045	3	262	0.0115	-22	c.196 others(41): Show c.196+57933_196+57954delTGTGTGTGTGTGTGTGCGCGCG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54626051	TGTGTGTG others(15): Show TGTGTGTGTGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02897.hp2 others(6): Show HG02280.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0055 a0001c0001t0060 a0001c0001t0079 a0005c0012t0013	a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0002g0223 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0002g0223 a0001c0001t0004g0128 a0001c0001t0009g0214 a0001c0001t0055g0056 a0001c0001t0060g0196 a0001c0001t0079g0192 a0005c0012t0013g0155	9	262	0.0344	-22	c.196 others(41): Show c.196+57941_196+57962delTGTGTGTGCGCGCGCGCGCGCG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02970.hp1 NA18948.hp1 others(1): Show HG02027.hp2 HG02970.hp1 NA18948.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0056 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0056 a0001c0008t0016	a0001c0001t0003g0207 a0001c0001t0005g0082 a0001c0001t0056g0045 others(1): Show a0001c0001t0003g0207 a0001c0001t0005g0082 a0001c0001t0056g0045 a0001c0008t0016g0220	4	262	0.0153	-22	c.197 others(41): Show c.197-23567_197-23546delGTGTGTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG01496.hp2 others(4): Show HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp2 HG03704.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0083 a0001c0002t0005	a0001c0001t0001g0052 a0001c0001t0002g0164 a0001c0001t0010g0120 others(4): Show a0001c0001t0001g0052 a0001c0001t0002g0164 a0001c0001t0010g0120 a0001c0001t0012g0236 a0001c0001t0019g0104 a0001c0001t0083g0194 a0001c0002t0005g0072	7	262	0.0267	-22	c.716 others(39): Show c.716-9838_716-9817delTTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54795970	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0045 a0001c0001t0056g0045	1	262	0.0038	-22	c.70 others(33): Show c.7027_*7048delTGTGTGTGTGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		2659		chr14	TogoVar
SAMD4B_chr19_39337421_39390700	39339703	CCCCCCCC others(15): Show CCCCCCCCCCACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG03579.hp1 HG01891.hp1 HG02896.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0021 a0001c0001t0002g0128 a0001c0001t0002g0134	3	232	0.0129	-22	c.-31 others(33): Show c.-3139_-3118delCCCCCCCCCACACACACACACA	SAMD4B	ENSG00000179134.16	transcript	ENST00000610417.5	protein_coding		2717		chr19	TogoVar
SAMD5_chr6_147503690_147575021	147508597	CCCCCTCC others(15): Show CCCCCTCCCGCGCCAGTCGCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA19043.hp1 HG02698.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0183 a0001c0001t0017g0196 a0001c0001t0001g0183 a0001c0001t0017g0196	2	364	0.0055	-22	c.-33 others(31): Show c.-331_-310delCCCCTCCCGCGCCAGTCGCGCG	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding		92		chr6	TogoVar

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